Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for P56180

Entry ID Method Resolution Chain Position Source
AF-P56180-F1 Predicted AlphaFoldDB

1277 variants for P56180

Variant ID(s) Position Change Description Diseaes Association Provenance
TCGA novel 1 M>? Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 3 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409855169
rs1255945263
3 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1365331896
CA409855178
4 S>C No ClinGen
gnomAD
TCGA novel 4 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1288786195
CA409855198
4 S>R No ClinGen
gnomAD
TCGA novel 4 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780937290
CA9978571
5 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1334658836
CA409855206
6 D>H No ClinGen
gnomAD
TCGA novel 6 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9978569
rs149877959
7 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs149877959
CA409855215
7 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs768447995
CA9978570
7 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA409855221
rs1302263000
8 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1287691911
CA409855216
8 T>P No ClinGen
TOPMed
TCGA novel 9 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9978566
rs750881399
10 L>M No ClinGen
ExAC
TOPMed
CA409855237
rs139096194
11 A>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 11 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs139096194
CA9978565
11 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9978561
rs760917517
12 G>A No ClinGen
ExAC
gnomAD
TCGA novel 12 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9978563
CA9978562
rs764249659
12 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
TOPMed
gnomAD
NCI-TCGA
CA9978558
rs762859803
13 V>A No ClinGen
ExAC
gnomAD
CA409855242
rs150733676
13 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs762859803
CA409855244
13 V>G No ClinGen
ExAC
gnomAD
CA9978560
rs150733676
13 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9978559
rs150733676
13 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs761362233
CA9978555
14 I>T No ClinGen
ExAC
gnomAD
rs371889505
CA9978556
14 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9978554
rs368747576
15 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1350649577
CA409855259
16 E>A No ClinGen
gnomAD
TCGA novel 16 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 17 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 17 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9978550
rs141265676
18 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9978551
rs746642375
18 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 18 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 19 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1488053137
CA409855275
19 P>S No ClinGen
TOPMed
CA9978547
rs757804219
20 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA9978546
rs757804219
20 N>T No ClinGen
ExAC
TOPMed
gnomAD
rs1298620209
CA409855289
21 D>A No ClinGen
gnomAD
TCGA novel 21 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780491487
CA9978494
23 P>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs753701324
CA9978492
24 Q>R No ClinGen
ExAC
gnomAD
CA409855329
rs1280255523
25 T>A No ClinGen
gnomAD
TCGA novel 25 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409855327
rs1280255523
25 T>P No ClinGen
gnomAD
CA317685791
rs1034867365
25 T>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA409855334
rs1334222473
26 S>C No ClinGen
gnomAD
TCGA novel 26 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1305293992
CA409855335
26 S>N No ClinGen
TOPMed
gnomAD
TCGA novel 26 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1305293992
CA409855336
26 S>T No ClinGen
TOPMed
gnomAD
TCGA novel 27 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 29 K>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409855360
rs1365439037
29 K>R No ClinGen
gnomAD
TCGA novel 30 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 31 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752616094
CA9978489
31 A>T No ClinGen
ExAC
gnomAD
CA9978488
rs767031383
31 A>V No ClinGen
ExAC
gnomAD
CA409855375
rs1424875846
32 T>A No ClinGen
TOPMed
TCGA novel 33 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751216471
CA9978486
33 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA9978484
rs143765390
35 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs143765390
CA9978485
35 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA409855402
rs1568960272
36 P>R No ClinGen
Ensembl
rs773587467
CA9978483
36 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA9978481
rs368032413
37 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9978482
rs770187693
37 A>T No ClinGen
ExAC
gnomAD
CA9978480
rs368032413
37 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA409855411
rs1362043376
38 K>R No ClinGen
Ensembl
CA409855417
rs1398151563
39 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1223320545
CA409855428
40 S>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA409855423
rs1342451134
40 S>R No ClinGen
TOPMed
TCGA novel 40 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776319606
CA9978426
41 P>L No ClinGen
ExAC
gnomAD
rs1353676205
CA409855446
41 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 41 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs573430979
CA9978423
42 H>L No ClinGen
1000Genomes
ExAC
gnomAD
rs553549668
CA9978421
42 H>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs573430979
CA9978422
42 H>R No ClinGen
1000Genomes
ExAC
gnomAD
rs372593053
CA9978424
42 H>Y No ClinGen
ESP
ExAC
gnomAD
CA9978420
rs191128347
43 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 43 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753570153
CA409855454
43 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA9978419
rs191128347
43 T>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs753570153
CA9978418
43 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA9978417
rs764341151
44 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs1481112615
CA409855465
45 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA409855463
rs1481112615
45 E>Q No ClinGen
TOPMed
gnomAD
rs1251062330
CA409855476
46 F>C No ClinGen
gnomAD
rs756601993
CA9978416
46 F>L No ClinGen
ExAC
gnomAD
CA409855484
rs1362128268
47 K>N No ClinGen
gnomAD
TCGA novel 48 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753249051
CA9978415
50 A>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA409855499
rs753249051
50 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA409855504
rs759630343
51 R>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9978413
rs759630343
51 R>Q Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs375208494
CA9978414
51 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA409855511
rs1391589964
52 V>G No ClinGen
TOPMed
gnomAD
TCGA novel 52 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 53 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409855520
rs1568961317
54 P>A No ClinGen
Ensembl
rs1380800742
CA409855522
54 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA409855519
rs1568961317
54 P>T No ClinGen
Ensembl
CA409855524
rs766581855
55 I>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs766581855
CA409855525
55 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA409855527
rs1600873450
55 I>T No ClinGen
Ensembl
rs766581855
CA9978410
55 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA409855531
rs1406559176
56 S>G No ClinGen
TOPMed
gnomAD
TCGA novel 56 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409855530
rs1406559176
56 S>R No ClinGen
TOPMed
gnomAD
rs1034839443
CA317686205
56 S>T No ClinGen
TOPMed
rs1366027684
CA409855539
57 E>* No ClinGen
gnomAD
TCGA novel 57 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773542326
CA9978408
58 S>G No ClinGen
ExAC
gnomAD
rs1422716916
CA409855547
58 S>N No ClinGen
gnomAD
CA9978409
rs773542326
58 S>R No ClinGen
ExAC
gnomAD
rs1184937704
CA409855574
59 V>A No ClinGen
gnomAD
rs762316652
CA9978358
59 V>M No ClinGen
ExAC
gnomAD
rs1262132371
CA409855584
61 A>S No ClinGen
TOPMed
gnomAD
rs1262132371
CA409855582
61 A>T No ClinGen
TOPMed
gnomAD
CA9978355
rs138821247
62 R>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs578173995
CA9978354
62 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9978353
rs578173995
62 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9978349
rs746405212
64 S>F No ClinGen
ExAC
rs758980001
CA409855597
64 S>P No ClinGen
ExAC
gnomAD
CA9978350
rs758980001
64 S>T No ClinGen
ExAC
gnomAD
CA409855603
rs1600890037
65 K>T No ClinGen
Ensembl
rs757387568
CA9978346
67 E>G No ClinGen
ExAC
gnomAD
CA9978345
rs111657679
68 V>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs111657679
CA9978344
68 V>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9978343
rs141287188
69 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs751388245
CA9978342
70 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs1455342655
CA409855635
70 D>H No ClinGen
TOPMed
rs766186396
CA9978341
71 A>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 72 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 73 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9978340
rs762915125
75 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA409855672
rs762915125
75 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs773330398
CA9978339
76 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs761414041
CA9978337
77 Y>N No ClinGen
ExAC
CA409855680
rs1184916247
77 Y>S No ClinGen
gnomAD
TCGA novel 78 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409855689
rs1439242294
78 D>G No ClinGen
gnomAD
rs1217933055
CA409817413
79 S>I No ClinGen
gnomAD
CA9978302
CA9978303
rs750266849
79 S>R No ClinGen
ExAC
gnomAD
CA9978301
rs778954637
80 K>E No ClinGen
ExAC
gnomAD
TCGA novel 80 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757230899
CA9978300
80 K>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs757230899
CA409817418
80 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA409817422
rs763651497
81 I>F No ClinGen
ExAC
TOPMed
gnomAD
CA9978298
rs763651497
81 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs763651497
CA9978299
81 I>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 83 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760172691
CA409817444
84 I>F No ClinGen
ExAC
TOPMed
gnomAD
CA9978297
rs760172691
84 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA409817451
rs1396717686
85 V>A No ClinGen
gnomAD
CA317598589
rs201974711
85 V>L No ClinGen
1000Genomes
ExAC
gnomAD
CA9978296
rs201974711
85 V>M No ClinGen
1000Genomes
ExAC
gnomAD
CA317598591
rs947422268
86 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1452854273
CA409817463
87 S>* No ClinGen
TOPMed
rs146617486
CA409817467
88 I>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs146617486
CA409817466
88 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA317598598
rs774725086
88 I>M No ClinGen
ExAC
TOPMed
rs146617486
CA9978294
88 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9978292
rs771322142
89 V>A No ClinGen
ExAC
gnomAD
TCGA novel 89 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773649955
CA9978290
90 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1215057188
CA409817485
91 S>C No ClinGen
TOPMed
TCGA novel 91 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1600900637
CA409817489
92 F>V No ClinGen
Ensembl
rs1273030549
CA409817499
93 A>V No ClinGen
TOPMed
CA409817508
rs1402199095
94 F>L No ClinGen
gnomAD
CA9978286
rs769031865
95 G>R No ClinGen
ExAC
gnomAD
CA9978285
rs747276081
95 G>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1224059298
CA409817524
96 L>I No ClinGen
TOPMed
gnomAD
TCGA novel 96 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1224059298
CA409817525
96 L>V No ClinGen
TOPMed
gnomAD
rs746535199
CA9978236
98 G>E No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 99 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9978235
rs779643234
99 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 100 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9978234
rs757957068
100 F>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 101 L>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA317599077
rs982997525
101 L>V No ClinGen
TOPMed
CA9978233
rs558436767
102 V>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
TCGA novel 102 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1161510768
CA409817564
103 L>V No ClinGen
gnomAD
CA409817572
rs1411632690
104 L>P No ClinGen
TOPMed
gnomAD
CA9978230
rs370278673
104 L>V No ClinGen
ESP
ExAC
TCGA novel 105 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764715975
CA9978228
106 V>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs764715975
CA409817585
106 V>D No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 106 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 107 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762040852
CA409817591
107 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs762040852
CA9978227
107 T>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 108 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs140748372
CA9978226
108 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA409817597
rs1453206794
109 I>L No ClinGen
TOPMed
TCGA novel 110 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409817611
rs1482810842
111 A>P No ClinGen
TOPMed
TCGA novel 111 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 112 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs139396383
CA9978223
112 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1440973763
CA409817619
112 D>V No ClinGen
gnomAD
TCGA novel 115 F>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 115 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 115 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1333264546
CA409817647
116 T>N No ClinGen
TOPMed
CA409817648
rs1333264546
116 T>S No ClinGen
TOPMed
rs1385045078
CA409817660
118 S>N No ClinGen
gnomAD
CA9978218
rs768601508
119 K>E No ClinGen
ExAC
gnomAD
TCGA novel 119 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9978217
rs746988740
119 K>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 120 L>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 120 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409817676
rs1388190275
120 L>R No ClinGen
gnomAD
rs556974504
CA9978215
121 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs556974504
CA9978216
121 Y>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs745506111
CA9978214
122 I>T No ClinGen
ExAC
gnomAD
rs1309434820
CA409817684
122 I>V No ClinGen
TOPMed
CA9978212
rs537044433
123 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA9978213
rs778635152
123 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1022480037
CA317599167
TCGA novel
124 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
TOPMed
gnomAD
NCI-TCGA
CA317599160
rs181214187
124 L>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9978211
rs181214187
124 L>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 125 E>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409817709
rs1170535192
126 Y>C No ClinGen
TOPMed
rs148393004
CA9978209
127 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 127 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs113140892
CA9978207
127 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs113140892
CA9978208
127 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148393004
CA9978210
127 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 128 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9978205
rs751664954
128 S>C No ClinGen
ExAC
gnomAD
CA9978206
rs751664954
128 S>F No ClinGen
ExAC
gnomAD
rs761546855
CA9978203
129 I>T No ClinGen
ExAC
gnomAD
CA9978204
rs371357693
129 I>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 130 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776380657
CA9978202
130 S>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA409817737
rs1309223423
132 A>D No ClinGen
TOPMed
gnomAD
CA409817736
rs1230908495
132 A>P No ClinGen
TOPMed
gnomAD
CA409817739
rs1309223423
132 A>V No ClinGen
TOPMed
gnomAD
CA9978200
rs760594483
133 I>S No ClinGen
ExAC
gnomAD
CA409817741
rs1299836157
133 I>V No ClinGen
TOPMed
gnomAD
CA9978199
rs548871257
134 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs745398858
CA9978197
135 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA9978196
rs778385277
136 F>C No ClinGen
ExAC
gnomAD
CA409817758
rs1454820172
136 F>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 137 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs58884111
CA317599214
138 L>F No ClinGen
ExAC
gnomAD
CA9978194
rs748984984
138 L>H No ClinGen
ExAC
CA9978195
rs58884111
138 L>I No ClinGen
ExAC
gnomAD
rs1349214784 138 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409817781
rs756602065
CA9978192
139 M>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
TOPMed
gnomAD
NCI-TCGA
CA409817780
rs1169843624
139 M>R No ClinGen
gnomAD
rs1375298987
CA409817776
139 M>V No ClinGen
TOPMed
gnomAD
TCGA novel 140 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9978191
rs748657909
140 D>N No ClinGen
ExAC
gnomAD
rs781723934
CA9978190
140 D>V No ClinGen
ExAC
gnomAD
TCGA novel 140 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409817793
rs1359876033
141 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs754952718
CA9978189
141 V>I No ClinGen
ExAC
gnomAD
rs956530051
CA409817794
142 L>F No ClinGen
TOPMed
gnomAD
CA317599248
rs766470602
142 L>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 142 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766470602
CA9978187
142 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs956530051
CA317599247
142 L>V No ClinGen
TOPMed
gnomAD
CA409817799
rs1421061378
143 L>F No ClinGen
gnomAD
CA9978185
rs534971558
144 R>* No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 144 R>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
VAR_036516
CA9978184
rs144333919
144 R>Q a breast cancer sample; somatic mutation [UniProt] No ClinGen
UniProt
ESP
ExAC
TOPMed
dbSNP
TCGA novel 145 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1227662906
CA409817806
145 V>I No ClinGen
TOPMed
gnomAD
CA409817807
rs1227662906
145 V>L No ClinGen
TOPMed
gnomAD
rs117465555
CA9978182
147 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs117465555
CA409817821
147 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 148 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9978181
rs775235250
149 R>G No ClinGen
ExAC
gnomAD
CA9978180
rs767516117
149 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 150 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 150 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 150 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 151 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9978118
rs751331487
151 Q>K No ClinGen
ExAC
gnomAD
TCGA novel 151 Q>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 152 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs545685203
CA9978116
152 Q>R No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 153 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9978113
rs764836489
153 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs764836489
CA9978114
153 Y>F No ClinGen
ExAC
gnomAD
TCGA novel 154 F>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1360133131
CA409817880
154 F>S No ClinGen
TOPMed
rs753473286
CA9978111
155 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 155 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9978108
rs767922290
CA9978107
156 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA9978110
rs763679653
156 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA409817899
rs760019807
CA9978106
157 L>F No ClinGen
ExAC
gnomAD
CA409817895
rs1344965268
157 L>V No ClinGen
TOPMed
gnomAD
rs576586650
CA9978105
158 F>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1365376661
CA409817909
159 N>D No ClinGen
gnomAD
CA409817911
rs749339905
159 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 159 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749339905
CA9978103
159 N>T No ClinGen
ExAC
TOPMed
gnomAD
CA9978100
rs748420771
161 L>* No ClinGen
ExAC
gnomAD
CA9978101
rs769938767
161 L>V No ClinGen
ExAC
gnomAD
CA9978098
rs758335031
162 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs779972291
CA9978099
162 D>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA9978097
rs745734162
163 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs779009659
CA9978096
163 T>I No ClinGen
ExAC
gnomAD
TCGA novel 163 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs974928235
CA317601818
164 A>S No ClinGen
TOPMed
CA9978094
rs753321553
165 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA9978095
rs756744570
165 I>V No ClinGen
ExAC
gnomAD
CA9978091
rs752408703
166 I>F No ClinGen
ExAC
TOPMed
gnomAD
rs372056580
CA9978090
166 I>T No ClinGen
ESP
ExAC
gnomAD
rs752408703
CA9978092
166 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1600916686
CA409817952
167 V>L No ClinGen
Ensembl
rs759895278
CA9978089
168 I>L No ClinGen
ExAC
gnomAD
TCGA novel 168 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409817959
rs1336869572
168 I>T No ClinGen
TOPMed
CA409817963
rs556698994
169 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs556698994
CA9978088
169 L>I Variant assessed as Somatic; 0.0004164 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 170 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs769964335
CA9978084
172 V>D No ClinGen
ExAC
TOPMed
rs773134113
CA9978086
172 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs773134113
CA9978085
172 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1293322799
CA409817983
173 D>E No ClinGen
TOPMed
rs771936846
CA9978082
173 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA9978083
rs748367707
173 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA9978081
rs771936846
173 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs778872276
CA9978079
174 V>A No ClinGen
ExAC
gnomAD
CA409817986
rs745681114
174 V>F No ClinGen
ExAC
gnomAD
rs745681114
CA9978080
174 V>I No ClinGen
ExAC
gnomAD
CA409817991
rs1430389765
175 V>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs755683317
CA9978075
175 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs755683317
CA9978076
175 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1426895138
CA409817998
176 Y>* No ClinGen
gnomAD
rs752275988
CA9978073
176 Y>H No ClinGen
ExAC
gnomAD
CA9978072
rs755284879
177 I>F No ClinGen
ExAC
gnomAD
CA9978071
rs755284879
177 I>L No ClinGen
ExAC
gnomAD
CA409818001
rs1182728342
177 I>N No ClinGen
gnomAD
TCGA novel 178 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1255908843
CA409818009
178 F>S No ClinGen
gnomAD
TCGA novel 178 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409818008
rs1255908843
178 F>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 179 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409818024
rs1194972976
180 D>Y No ClinGen
TOPMed
rs763345667
CA9978066
181 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs367969920
CA9978067
181 I>V No ClinGen
ESP
ExAC
gnomAD
CA409818039
rs750996733
182 K>M No ClinGen
ExAC
TOPMed
gnomAD
rs750996733
CA9978065
182 K>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 182 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1202420817
CA409818044
183 L>* No ClinGen
gnomAD
rs761998205
CA9978063
183 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs776946246
CA9978061
184 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs968847494
CA9978058
185 R>G No ClinGen
TOPMed
CA9978056
rs773997628
185 R>K No ClinGen
ExAC
gnomAD
CA9978055
rs770820681
185 R>S No ClinGen
ExAC
gnomAD
CA9978057
rs773997628
185 R>T No ClinGen
ExAC
gnomAD
CA409818057
rs1410316854
186 N>D No ClinGen
gnomAD
TCGA novel 186 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9978054
rs749182650
186 N>S No ClinGen
ExAC
gnomAD
CA317601996
rs878915635
187 I>M No ClinGen
gnomAD
TCGA novel 187 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9978052
rs769232775
187 I>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 188 P>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 188 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747676071
CA9978051
188 P>R No ClinGen
ExAC
gnomAD
TCGA novel 188 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 189 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9978049
rs138088406
189 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1326665432
CA409818090
189 R>S No ClinGen
TOPMed
CA9978050
rs138088406
189 R>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA409818095
rs1255334410
190 W>* No ClinGen
gnomAD
rs1483486377
CA409818093
190 W>R No ClinGen
gnomAD
rs751838173
CA9977994
191 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA9977993
rs765013039
191 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1229365937
CA409818106
192 H>D No ClinGen
gnomAD
CA409818105
rs1229365937
192 H>N No ClinGen
gnomAD
TCGA novel 192 H>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1364743880
CA409818109
192 H>R No ClinGen
gnomAD
rs1229365937
CA409818107
192 H>Y No ClinGen
gnomAD
TCGA novel 193 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9977991
rs776502829
194 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs546847748
CA9977990
194 L>H No ClinGen
1000Genomes
ExAC
gnomAD
rs546847748
CA409818122
194 L>P No ClinGen
1000Genomes
ExAC
gnomAD
rs776502829
CA409818121
194 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA9977988
rs775040644
195 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9977987
rs1810856
195 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA9977986
rs1810856
VAR_057347
195 R>Q No ClinGen
UniProt
ExAC
TOPMed
dbSNP
gnomAD
rs771358886
CA9977984
196 L>P No ClinGen
ExAC
gnomAD
rs774147763
CA9977985
196 L>V No ClinGen
ExAC
gnomAD
CA9977982
rs147014138
198 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9977983
rs147014138
198 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs756616733
CA9977981
198 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs796693040
CA409818138
199 L>F No ClinGen
TOPMed
gnomAD
TCGA novel 199 L>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA317602813
rs796693040
199 L>I No ClinGen
TOPMed
gnomAD
rs1368265719
CA409818141
199 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA409818137
rs796693040
199 L>V No ClinGen
TOPMed
gnomAD
CA9977980
rs748655283
200 I>T No ClinGen
ExAC
gnomAD
rs781320323
CA9977979
201 I>N No ClinGen
ExAC
gnomAD
rs1447008838
CA409818154
202 L>M No ClinGen
TOPMed
rs757005766
CA9977973
204 R>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1160110233
CA409818177
205 I>M No ClinGen
gnomAD
TCGA novel 205 I>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1263464205
CA409818175
205 I>T No ClinGen
TOPMed
rs753599184
CA9977972
205 I>V No ClinGen
ExAC
gnomAD
CA409818183
rs1293093836
206 F>S No ClinGen
TOPMed
gnomAD
CA409818181
rs1293093836
206 F>Y No ClinGen
TOPMed
gnomAD
TCGA novel 207 H>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs148306452
CA9977971
207 H>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 207 H>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs148306452
CA9977970
207 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 207 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409818195
rs1309227089
208 L>R No ClinGen
gnomAD
TCGA novel 208 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 209 F>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766982471
CA9977968
209 F>L No ClinGen
ExAC
gnomAD
rs550676604
CA9977966
210 H>L No ClinGen
1000Genomes
ExAC
gnomAD
CA9977967
rs759128119
210 H>N No ClinGen
ExAC
TOPMed
gnomAD
CA9977965
rs143230290
211 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs143230290
CA409818211
211 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs141319407
CA9977964
211 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs773692291
CA9977963
212 K>E No ClinGen
ExAC
gnomAD
rs770116757
CA9977962
212 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1181453637
CA409818223
213 R>* No ClinGen
gnomAD
rs1568981005 213 R>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 213 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 213 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs748685215
CA9977961
213 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1271034419
CA409818238
215 L>F No ClinGen
gnomAD
CA409818240
rs1211817707
215 L>P No ClinGen
TOPMed
gnomAD
rs1211817707
CA409818241
215 L>R No ClinGen
TOPMed
gnomAD
CA409818242
rs1568981033
216 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA409818256
CA409818257
rs1357325155
217 K>N No ClinGen
TOPMed
gnomAD
CA409818260
rs781556068
218 L>Q No ClinGen
ExAC
gnomAD
CA9977960
rs781556068
218 L>R No ClinGen
ExAC
gnomAD
rs1352783639
CA409818263
219 I>L No ClinGen
gnomAD
CA9977957
rs780146856
219 I>M No ClinGen
ExAC
gnomAD
CA409818272
rs1216098135
220 R>I No ClinGen
gnomAD
CA409818270
rs1216098135
220 R>K No ClinGen
gnomAD
rs758595440
CA9977956
220 R>S No ClinGen
ExAC
gnomAD
CA9977954
rs1243361386
221 R>G No ClinGen
TOPMed
rs1333426167
CA409818275
221 R>K No ClinGen
TOPMed
gnomAD
rs1450717329
CA409818279
221 R>S No ClinGen
TOPMed
CA409818276
rs1333426167
221 R>T No ClinGen
TOPMed
gnomAD
TCGA novel
rs1273898804
222 R>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs530503790
CA409818282
222 R>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs530503790
CA9977948
222 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs76723236
CA9977949
222 R>W No ClinGen
ExAC
TOPMed
TCGA novel 223 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409818293
rs1212492438
223 V>I No ClinGen
gnomAD
CA409818304
rs1381007288
224 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 225 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760125022
CA9977884
226 N>D No ClinGen
ExAC
gnomAD
CA9977885
rs760125022
226 N>H No ClinGen
ExAC
gnomAD
CA409818320
rs1353499643
227 K>E No ClinGen
gnomAD
rs771102738
CA9977882
227 K>N No ClinGen
ExAC
gnomAD
TCGA novel 228 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 228 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749470071
CA9977880
228 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1810540
CA9977878
229 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA409818334
rs566493792
229 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs566493792
CA9977877
229 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 230 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745876374
CA9977874
230 Y>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA409818345
rs1185018439
231 T>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA409818346
rs1185018439
231 T>R No ClinGen
gnomAD
rs1256015892
CA409818344
231 T>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA409818352
rs1460256558
232 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA9977871
rs756795446
232 R>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs777423996
CA409818356
233 D>A No ClinGen
ExAC
gnomAD
TCGA novel 233 D>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753370600
CA9977870
233 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs777423996
CA9977869
233 D>V No ClinGen
ExAC
gnomAD
CA9977867
rs753025946
234 G>* No ClinGen
ExAC
gnomAD
TCGA novel 234 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767922064
CA9977866
235 F>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 236 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 236 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409818372
rs1332496921
236 D>Y No ClinGen
gnomAD
CA9977864
rs752179158
237 L>I No ClinGen
ExAC
gnomAD
CA9977863
rs766306733
237 L>P No ClinGen
ExAC
gnomAD
CA9977865
rs752179158
237 L>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA409818388
rs773520801
238 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA9977862
rs763108699
238 D>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1440212412
CA409818393
239 L>P No ClinGen
TOPMed
gnomAD
CA409818394
rs1440212412
239 L>R No ClinGen
TOPMed
gnomAD
CA409818400
rs1319030312
240 T>I No ClinGen
TOPMed
rs1351818147
CA409818395
240 T>P No ClinGen
gnomAD
rs1351818147
CA409818397
240 T>S No ClinGen
gnomAD
CA9977859
rs770155216
241 Y>* No ClinGen
ExAC
rs112131828
CA9977857
241 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9977860
rs770172879
241 Y>H No ClinGen
ExAC
gnomAD
rs113857613
CA9977854
242 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs113857613
CA9977855
242 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9977856
rs113857613
242 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 243 T>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 243 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9977852
rs748824726
243 T>R No ClinGen
ExAC
gnomAD
CA9977853
rs770294722
243 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs755738282
CA9977850
244 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA9977778
rs376901636
245 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9977780
rs376901636
245 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs371995616
CA9977776
245 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371995616
CA9977775
245 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371995616
CA9977777
245 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376901636
CA9977779
245 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9977773
rs149843545
246 I>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs149843545
CA9977772
246 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9977774
rs139751293
246 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 247 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 248 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9977770
rs753721708
248 A>V No ClinGen
ExAC
gnomAD
CA409818451
rs760125718
CA9977768
249 M>I No ClinGen
ExAC
gnomAD
TCGA novel 249 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763600502
CA9977769
249 M>V No ClinGen
ExAC
gnomAD
CA9977766
rs771816323
250 S>* No ClinGen
ExAC
gnomAD
rs771816323
CA9977767
250 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1164702145
CA409818461
251 F>S No ClinGen
gnomAD
rs771485500
CA9977763
252 P>L No ClinGen
ExAC
gnomAD
rs771485500
CA409818468
252 P>R No ClinGen
ExAC
gnomAD
rs774840971
CA409818466
252 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA9977764
rs774840971
252 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA9977762
rs749740113
253 S>P No ClinGen
ExAC
gnomAD
CA9977761
rs778158530
253 S>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA9977760
rs769873939
254 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA409818480
rs1248684784
255 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA9977759
rs557388284
CA9977758
255 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1469146787
CA409818482
256 R>G No ClinGen
gnomAD
rs751839881
CA9977756
256 R>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA9977753
rs753759047
257 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs947389703
CA409818492
257 Q>H No ClinGen
TOPMed
CA9977754
rs753759047
257 Q>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 257 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9977751
rs752229389
258 S>C No ClinGen
ExAC
gnomAD
rs752229389
CA9977750
258 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs763970376
CA9977752
258 S>T No ClinGen
ExAC
gnomAD
rs752229389
CA409818496
258 S>Y No ClinGen
ExAC
gnomAD
CA9977749
rs767190339
259 F>C No ClinGen
ExAC
gnomAD
rs568590987
CA9977748
259 F>L No ClinGen
1000Genomes
ExAC
gnomAD
rs767190339
CA409818501
259 F>S No ClinGen
ExAC
gnomAD
TCGA novel 259 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9977747
rs368392876
260 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 260 Y>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 261 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409818510
rs1323653855
261 R>G No ClinGen
gnomAD
rs1473567685
CA409818512
261 R>K No ClinGen
TOPMed
TCGA novel 261 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409818530
rs1402319455
263 P>L No ClinGen
gnomAD
TCGA novel 263 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9977746
rs763252474
264 I>F No ClinGen
ExAC
TOPMed
gnomAD
rs1192032603
CA409818534
264 I>M No ClinGen
TOPMed
rs555185771
CA317603721
264 I>N No ClinGen
1000Genomes
TCGA novel 264 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9977745
rs763252474
264 I>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel
rs534750768
CA9977741
265 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
NCI-TCGA
rs773734060
CA9977744
265 K>Q No ClinGen
ExAC
gnomAD
CA9977743
rs770173979
265 K>R No ClinGen
ExAC
gnomAD
TCGA novel 266 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1328516038
CA409818552
266 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1328516038
CA409818553
266 E>Q No ClinGen
gnomAD
rs1314690861
CA409818562
267 V>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs778657533
CA409818561
267 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs778657533
CA9977688
267 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1166228143
CA409818567
268 V>M No ClinGen
gnomAD
CA9977686
rs754178012
269 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs141045272
CA9977687
269 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764500781
CA9977685
270 F>L No ClinGen
ExAC
gnomAD
rs764500781
CA409818575
270 F>V No ClinGen
ExAC
gnomAD
CA409818576
rs1480710700
270 F>Y No ClinGen
gnomAD
CA9977683
rs74553878
272 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9977684
rs761162465
272 D>H No ClinGen
ExAC
gnomAD
CA409818586
rs761162465
272 D>N No ClinGen
ExAC
gnomAD
CA9977681
rs534010574
273 K>* No ClinGen
1000Genomes
ExAC
gnomAD
CA9977682
rs534010574
273 K>E No ClinGen
1000Genomes
ExAC
gnomAD
CA409818594
rs1232536001
273 K>R No ClinGen
gnomAD
rs1232536001
CA409818593
273 K>T No ClinGen
gnomAD
CA409818605
rs1449928765
274 K>N No ClinGen
TOPMed
gnomAD
rs763319578
CA9977677
275 H>L No ClinGen
ExAC
gnomAD
CA409818609
rs776558201
CA9977675
275 H>Q No ClinGen
ExAC
gnomAD
rs763319578
CA9977676
275 H>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA317607379
rs571326171
275 H>Y No ClinGen
1000Genomes
rs148448130
CA9977673
276 R>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9977674
rs148448130
276 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9977672
rs200020621
276 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA9977671
rs200020621
276 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1327006359
CA409818613
277 N>D No ClinGen
gnomAD
CA409818611
rs1327006359
277 N>H No ClinGen
gnomAD
rs1461301295
CA409818618
277 N>K No ClinGen
TOPMed
gnomAD
TCGA novel 278 H>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778442291
CA9977670
278 H>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA9977668
rs749002591
278 H>P No ClinGen
ExAC
TOPMed
gnomAD
CA9977667
rs749002591
278 H>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs778442291
CA9977669
278 H>Y No ClinGen
ExAC
gnomAD
rs1368844840
CA746906350
279 Y>* No ClinGen
TOPMed
CA9977666
rs778041505
279 Y>C No ClinGen
ExAC
gnomAD
rs755481692
CA9977663
280 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs755481692
CA9977664
280 R>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 280 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs532485045
CA9977661
280 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs532485045
CA9977660
280 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9977656
rs570106512
281 V>G No ClinGen
1000Genomes
rs773573743
CA9977658
281 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs773573743
CA9977659
281 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs760543605
CA9977654
282 Y>C No ClinGen
ExAC
gnomAD
rs760543605
CA409818637
282 Y>S No ClinGen
ExAC
gnomAD
rs745849745
CA9977651
283 N>D No ClinGen
ExAC
gnomAD
TCGA novel 283 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 283 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs550201639
CA9977650
283 N>S No ClinGen
1000Genomes
ExAC
gnomAD
rs745849745
CA9977652
283 N>Y No ClinGen
ExAC
gnomAD
rs1304526750
CA409818656
285 C>* No ClinGen
gnomAD
CA9977647
rs777422330
285 C>R No ClinGen
ExAC
gnomAD
TCGA novel 285 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409818659
rs756392301
286 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA9977646
rs756392301
286 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs762873682
CA9977588
286 S>I No ClinGen
ExAC
TOPMed
gnomAD
CA409818671
rs762873682
286 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs1430946858
CA409818676
287 E>Q No ClinGen
TOPMed
CA9977587
rs149333450
288 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9977586
rs764750519
288 R>T No ClinGen
ExAC
gnomAD
rs1555815970
CA9977584
289 A>D No ClinGen
Ensembl
CA409818688
rs1360961339
289 A>T No ClinGen
gnomAD
CA9977582
rs778991288
290 Y>* No ClinGen
ExAC
TOPMed
TCGA novel 290 Y>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9977578
rs760460329
291 D>E No ClinGen
ExAC
gnomAD
rs373367615
CA9977580
291 D>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs373367615
CA9977579
291 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs373367615
CA317607803
291 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA409818705
rs1255325443
292 P>T No ClinGen
TOPMed
TCGA novel 293 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772565284
CA409818717
293 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA409818736
rs1235252872
296 H>D No ClinGen
TOPMed
rs1241942614
CA409818740
296 H>L No ClinGen
gnomAD
rs1235252872
CA409818735
296 H>Y No ClinGen
TOPMed
CA409818743
rs1307200154
297 N>D No ClinGen
gnomAD
TCGA novel 297 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749295156
CA409818753
298 R>K No ClinGen
ExAC
gnomAD
CA9977572
rs749295156
298 R>M No ClinGen
ExAC
gnomAD
CA9977571
rs777956432
298 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1555815998
CA9977568
299 V>A No ClinGen
Ensembl
TCGA novel 299 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9977570
rs139617622
299 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs139963428
CA9977564
300 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9977563
rs139963428
300 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA409818764
rs1471839718
301 R>G No ClinGen
gnomAD
TCGA novel 301 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409818768
rs1464146574
301 R>K No ClinGen
TOPMed
TCGA novel 302 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 302 I>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 302 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753268180
CA9977561
302 I>N No ClinGen
ExAC
TOPMed
gnomAD
CA409818773
rs753268180
302 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs757262160
CA9977562
302 I>V No ClinGen
ExAC
gnomAD
CA409818784
TCGA novel
rs1236673150
303 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
gnomAD
CA409818776
TCGA novel
rs1439327538
303 M>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
gnomAD
NCI-TCGA
CA9977559
rs200373866
304 I>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 304 I>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763761168
CA9977560
304 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1173912047
CA409818786
304 I>V No ClinGen
TOPMed
TCGA novel 305 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775291247
CA9977558
305 D>Y No ClinGen
ExAC
gnomAD
CA409818800
rs1301828196
306 D>E No ClinGen
gnomAD
rs759848069
CA317607865
306 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs759848069
CA9977556
306 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA9977557
rs767943361
306 D>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 307 H>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9977555
rs774817598
307 H>R No ClinGen
ExAC
gnomAD
CA409818810
rs1238898616
308 N>D No ClinGen
gnomAD
TCGA novel 308 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9977554
rs771318641
308 N>S No ClinGen
ExAC
gnomAD
TCGA novel 309 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9977550
rs748311592
309 V>D No ClinGen
ExAC
gnomAD
rs373623566
CA9977552
309 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9977551
rs373623566
309 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9977546
rs142719163
310 P>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9977545
rs142719163
310 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs745622481
CA9977547
310 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs745622481
CA9977548
310 P>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 311 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs199963822
CA9977540
312 L>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9977541
rs199963822
312 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9977537
rs564242982
313 H>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs564242982
CA9977536
313 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs377711707
CA9977538
313 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs4094946
CA9977473
314 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs4094946
CA9977472
314 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs375679452
CA9977470
314 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 314 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs571590085
CA9977471
314 Q>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs571590085
CA409818848
314 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs754298589
CA9977467
315 M>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA409818853
rs757639152
315 M>K No ClinGen
ExAC
gnomAD
rs779188578
CA9977469
315 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA9977468
rs757639152
315 M>T No ClinGen
ExAC
gnomAD
rs779188578
CA409818851
315 M>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA409818857
rs764628536
316 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA9977466
rs764628536
316 V>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 317 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 318 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9977464
rs558058436
319 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs538136276
CA9977463
319 T>I No ClinGen
1000Genomes
ExAC
gnomAD
CA409818879
rs538136276
319 T>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
TCGA novel 320 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774728792
CA9977461
320 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs774728792
CA409818883
320 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA409818889
rs1463937346
321 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 321 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9977459
rs761732225
322 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs746981324
CA9977456
323 N>D No ClinGen
ExAC
gnomAD
TCGA novel
rs1600943006
CA409818904
323 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA9977455
rs775063074
323 N>S No ClinGen
ExAC
gnomAD
CA9977454
rs771577928
324 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1600943032
CA409818909
324 E>V No ClinGen
Ensembl
rs1405114738
CA409818915
325 W>* No ClinGen
gnomAD
CA9977451
rs756940047
325 W>C No ClinGen
ExAC
gnomAD
rs145674850
CA9977452
325 W>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1308850547
CA409818922
326 M>K No ClinGen
gnomAD
CA409818923
rs1308850547
326 M>T No ClinGen
gnomAD
CA9977450
rs749639367
326 M>V No ClinGen
ExAC
gnomAD
rs756637390
CA9977448
327 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs778056355
CA9977449
327 A>P No ClinGen
ExAC
gnomAD
CA9977445
rs767577291
328 Q>E No ClinGen
ExAC
gnomAD
CA9977440
rs569151332
329 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs763319592
CA9977442
329 D>G No ClinGen
ExAC
gnomAD
TCGA novel 329 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9977443
rs751792307
329 D>N No ClinGen
ExAC
gnomAD
rs763319592
CA9977441
329 D>V No ClinGen
ExAC
gnomAD
CA9977444
rs751792307
329 D>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA409818942
rs1419823055
330 L>F No ClinGen
gnomAD
TCGA novel 330 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9977438
rs760596997
330 L>P No ClinGen
ExAC
gnomAD
rs1455374739
CA409818951
331 E>G No ClinGen
gnomAD
rs1259242864
CA409818957
332 N>H No ClinGen
Ensembl
CA409818965
rs1190511832
333 I>N No ClinGen
gnomAD
rs775309084
CA9977437
333 I>V No ClinGen
ExAC
gnomAD
CA9977432
rs149228869
334 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9977434
rs149228869
CA9977433
334 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9977430
rs371882723
335 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 335 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9977429
rs371882723
335 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA409818977
rs751667955
336 I>F No ClinGen
ExAC
TOPMed
gnomAD
rs780342614
CA9977425
336 I>T No ClinGen
ExAC
gnomAD
CA9977426
rs751667955
336 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1302442512
CA409818981
337 H>N Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1302442512
CA409818983
337 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs750618460
CA409818993
338 C>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 338 C>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750618460
CA9977423
338 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA9977422
rs763895749
339 K>E No ClinGen
ExAC
gnomAD
rs1379105045
CA409819000
339 K>I No ClinGen
TOPMed
TCGA novel 339 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 340 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1206013199
CA409819011
341 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs760415994
CA9977421
341 G>S No ClinGen
ExAC
gnomAD
TCGA novel 341 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 342 T>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767416660
CA9977419
342 T>A No ClinGen
ExAC
gnomAD
rs759523599
CA409819017
342 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA9977418
rs759523599
342 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs767416660
CA409819015
342 T>S No ClinGen
ExAC
gnomAD
rs763812669
CA9977351
343 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs770431415
CA9977416
343 D>N No ClinGen
ExAC
gnomAD
TCGA novel 343 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409819039
rs1162716274
344 R>G No ClinGen
TOPMed
gnomAD
TCGA novel 344 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409819042
rs1456490474
344 R>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs760458375
CA9977350
345 T>I No ClinGen
ExAC
gnomAD
rs752996568
CA9977349
346 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 346 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767925419
CA9977348
347 T>A No ClinGen
ExAC
gnomAD
CA9977347
rs759901111
347 T>N No ClinGen
ExAC
gnomAD
CA409819066
rs770958415
CA9977345
348 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA409819062
rs1353219798
348 M>K No ClinGen
TOPMed
rs774942411
CA9977346
348 M>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 349 V>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762988096
CA317613440
349 V>I No ClinGen
ExAC
gnomAD
rs762988096
CA9977344
349 V>L No ClinGen
ExAC
gnomAD
CA317613445
rs202169239
350 C>F No ClinGen
1000Genomes
gnomAD
TCGA novel 351 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773329925
CA9977343
351 A>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 351 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9977341
rs148651545
352 F>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs779650133
CA9977340
353 L>V No ClinGen
ExAC
gnomAD
rs374102942
CA9977338
354 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs777490013
CA9977334
355 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs757306400
CA9977337
355 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA9977336
rs757306400
355 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs777490013
CA9977335
355 A>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 356 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1162654957
CA409819108
356 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 356 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 356 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9977331
rs575650462
357 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9977329
rs370631185
358 I>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1174648889
CA409819121
358 I>M No ClinGen
gnomAD
rs370631185
CA409819119
358 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs367973111
CA9977327
359 C>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs367973111
CA409819123
359 C>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1377549344
CA409819124
359 C>Y No ClinGen
gnomAD
CA9977325
rs763509744
361 T>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs773278292
CA9977324
361 T>S No ClinGen
ExAC
gnomAD
rs144150406
CA9977323
362 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs761887091
CA9977322
362 A>V No ClinGen
ExAC
gnomAD
rs1200817152
CA409819144
363 K>E No ClinGen
gnomAD
CA9977320
rs73336307
CA9977319
363 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 364 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9977260
rs752863082
365 S>N No ClinGen
ExAC
gnomAD
rs557556075
CA9977259
365 S>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA409819170
rs752863082
365 S>T No ClinGen
ExAC
gnomAD
CA9977258
rs759896199
366 L>P No ClinGen
ExAC
gnomAD
rs1425262032
CA409819181
367 Y>C No ClinGen
TOPMed
rs750239904
CA409819189
368 Y>C No ClinGen
ExAC
gnomAD
rs750239904
CA9977257
368 Y>F No ClinGen
ExAC
gnomAD
TCGA novel 369 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 369 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764947521
CA9977256
369 F>Y No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 371 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409819212
rs1448997269
371 E>D No ClinGen
TOPMed
TCGA novel 371 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1568768090
CA409819206
371 E>Q No ClinGen
Ensembl
rs1242592108
CA409819213
372 R>G No ClinGen
TOPMed
gnomAD
TCGA novel 372 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9977254
rs537312499
373 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9977253
rs568780841
373 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 374 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775033829
CA9977251
374 T>I No ClinGen
ExAC
gnomAD
TCGA novel 375 D>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1600971676
CA409819234
375 D>E No ClinGen
Ensembl
TCGA novel 375 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409819229
rs1435060214
375 D>N No ClinGen
gnomAD
CA409819232
rs1389865708
375 D>V No ClinGen
TOPMed
gnomAD
CA409819238
rs1363177690
376 K>* No ClinGen
gnomAD
rs1363177690
CA409819237
376 K>E No ClinGen
gnomAD
TCGA novel 376 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1419954462
CA409819248
377 T>I No ClinGen
gnomAD
CA9977249
rs368593383
377 T>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 378 H>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9977248
rs779276041
378 H>N No ClinGen
ExAC
gnomAD
CA9977247
rs771218867
378 H>R No ClinGen
ExAC
gnomAD
TCGA novel 379 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 379 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9977245
rs778109490
379 S>R No ClinGen
ExAC
gnomAD
CA9977243
CA409819260
rs371388267
379 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 379 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9977241
rs755184182
380 E>D No ClinGen
ExAC
gnomAD
CA9977242
rs781489069
380 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1219005434
CA409819268
381 K>E No ClinGen
gnomAD
TCGA novel 381 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751845563
CA9977240
381 K>R No ClinGen
ExAC
gnomAD
TCGA novel 382 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 382 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 383 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 383 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs142165446
CA9977238
384 G>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs142165446
TCGA novel
CA9977239
384 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
NCI-TCGA
rs1314325002
CA409819293
384 G>V No ClinGen
gnomAD
CA9977236
rs763919484
385 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA317614204
rs212146
386 K>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs212146
VAR_065097
CA9977235
386 K>E No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs212146
CA317614194
386 K>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs774909292
CA9977234
386 K>R No ClinGen
ExAC
gnomAD
CA409819304
rs1359494616
387 T>A No ClinGen
gnomAD
rs767024313
CA9977233
387 T>I No ClinGen
ExAC
gnomAD
TCGA novel 388 P>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773903588
CA9977231
388 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA409819308
rs759137049
388 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9977232
rs759137049
388 P>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1427778942 389 S>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1175222524
CA409819317
389 S>F No ClinGen
gnomAD
rs773683205
CA9977228
390 Q>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 390 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9977229
rs749592520
390 Q>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs754185411 391 K>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA9977168
rs754185411
391 K>N No ClinGen
ExAC
gnomAD
rs764581952
CA9977166
392 R>* No ClinGen
ExAC
gnomAD
TCGA novel 392 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409819341
rs1201661482
392 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 393 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761585045 393 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9977164
rs146018947
393 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA409819347
rs761069467
393 Y>D No ClinGen
ExAC
TOPMed
gnomAD
CA9977165
rs761069467
393 Y>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 394 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1286371238
CA409819356
394 V>G No ClinGen
gnomAD
rs1348096962
CA409819352
394 V>I No ClinGen
TOPMed
rs1348096962
CA9977161
394 V>L No ClinGen
TOPMed
rs759614386
CA9977160
395 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs1204319921
CA409819357
395 A>T No ClinGen
gnomAD
rs1346175489
CA409819367
CA409819368
396 Y>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
gnomAD
NCI-TCGA
rs771076869
CA9977158
396 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA409819372
rs1300915060
397 F>S No ClinGen
TOPMed
CA9977157
rs749579434
397 F>V No ClinGen
ExAC
gnomAD
rs555626581
CA409819376
398 A>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs555626581
CA9977156
398 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA409819380
rs1342604003
398 A>V No ClinGen
gnomAD
rs573185698
CA9977153
399 Q>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9977152
rs758288447
399 Q>H No ClinGen
ExAC
gnomAD
rs573185698
CA9977154
399 Q>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9977150
rs778568094
400 V>A No ClinGen
ExAC
gnomAD
CA9977151
rs749892686
CA409819387
400 V>L No ClinGen
ExAC
gnomAD
rs146717676
CA9977148
401 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 402 H>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409819402
rs1445024812
402 H>Q No ClinGen
gnomAD
rs756465436
CA9977146
402 H>R No ClinGen
ExAC
gnomAD
rs1263386872
CA409819399
402 H>Y No ClinGen
TOPMed
gnomAD
CA9977145
rs753029047
403 L>F No ClinGen
ExAC
TCGA novel 403 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs139488785
CA9977142
404 Y>S No ClinGen
ESP
TOPMed
gnomAD
CA409819418
rs1568778378
405 N>D No ClinGen
Ensembl
TCGA novel 405 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409819426
rs1221748195
406 W>* No ClinGen
TOPMed
gnomAD
CA409819430
rs1342464348
406 W>* No ClinGen
TOPMed
gnomAD
CA409819429
rs1342464348
406 W>C No ClinGen
TOPMed
gnomAD
CA9977139
rs774411073
406 W>R No ClinGen
ExAC
gnomAD
rs1163669069
CA409819437
407 N>S No ClinGen
gnomAD
rs267606169
CA317615445
408 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
TCGA novel 408 L>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel
CA409819440
rs267606169
408 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
Ensembl
rs1430308618
CA409819447
409 P>A No ClinGen
TOPMed
gnomAD
rs763139804
CA9977137
409 P>L No ClinGen
ExAC
gnomAD
rs1430308618
CA409819446
409 P>S No ClinGen
TOPMed
gnomAD
rs769940388
CA9977135
410 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA9977134
rs775159573
410 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA9977133
rs775159573
410 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA409819450
rs769940388
410 P>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 411 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 411 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756871735
CA9977130
412 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA9977129
rs756871735
412 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9977131
rs143510517
412 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 413 I>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777436958
CA9977128
413 I>M No ClinGen
ExAC
gnomAD
CA9977125
rs753041627
414 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs767837848
CA9977124
414 L>H No ClinGen
ExAC
gnomAD
rs767837848
CA409819469
414 L>P No ClinGen
ExAC
gnomAD
CA9977126
rs753041627
414 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1187994641
CA409819484
416 I>M No ClinGen
gnomAD
rs755465026
CA9977123
416 I>V No ClinGen
ExAC
gnomAD
CA9977122
rs752110213
417 K>R No ClinGen
ExAC
gnomAD
CA409819494
rs1432864309
418 H>N No ClinGen
TOPMed
rs766414837
CA9977119
418 H>P No ClinGen
ExAC
TOPMed
gnomAD
CA409819497
rs1159029352
418 H>Q No ClinGen
TOPMed
rs766414837
CA409819495
418 H>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 418 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9977118
rs762979710
419 F>I No ClinGen
ExAC
gnomAD
rs539061665
CA9977117
419 F>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA409819505
rs1214103584
420 I>L No ClinGen
gnomAD
CA409819508
rs761942601
420 I>N No ClinGen
ExAC
gnomAD
CA9977115
rs761942601
420 I>S No ClinGen
ExAC
gnomAD
CA409819509
rs761942601
420 I>T No ClinGen
ExAC
gnomAD
rs1214103584
CA409819506
420 I>V No ClinGen
gnomAD
TCGA novel 421 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1286237741
CA409819513
421 I>V No ClinGen
gnomAD
CA409819523
rs1162958799
422 Y>* No ClinGen
TOPMed
rs772047311
CA9977113
422 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA9977114
rs775347600
422 Y>H No ClinGen
ExAC
gnomAD
rs570468666
CA9977112
423 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs771019119
CA9977110
424 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA9977107
rs747814822
425 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA9977106
rs747814822
425 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs138794341
CA9977108
425 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 425 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9977104
rs150256961
426 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs150256961
CA9977105
426 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9977050
rs374643597
426 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA317616349
rs374643597
426 R>L No ClinGen
ExAC
gnomAD
CA9977048
rs141919406
427 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA409819552
rs1469295222
427 Y>C No ClinGen
TOPMed
gnomAD
rs1175629199
CA409819549
427 Y>D No ClinGen
TOPMed
gnomAD
CA409819550
rs1175629199
427 Y>H No ClinGen
TOPMed
gnomAD
CA9977046
rs771783444
429 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs746164402
CA9977045
429 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA409819570
rs1244217159
430 D>E No ClinGen
TOPMed
gnomAD
rs1185130243
CA409819565
430 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA9977044
rs774787076
430 D>V No ClinGen
ExAC
gnomAD
CA409819575
rs1469906857
431 L>P No ClinGen
TOPMed
CA409819572
rs1007047312
431 L>V No ClinGen
TOPMed
gnomAD
rs1461137118
CA409819583
432 K>N No ClinGen
gnomAD
rs1253677511
CA409819585
433 I>L No ClinGen
TOPMed
CA9977042
rs771341118
434 Q>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel
rs1252534610
CA409819597
434 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
gnomAD
CA409819596
rs1459555969
434 Q>L No ClinGen
TOPMed
gnomAD
rs1459555969
CA409819594
434 Q>P No ClinGen
TOPMed
gnomAD
CA9977041
rs749871986
435 I>M No ClinGen
ExAC
gnomAD
CA409819604
rs1227567112
435 I>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
TCGA novel 436 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs748269755
CA9977038
436 E>D No ClinGen
ExAC
gnomAD
CA9977039
rs553246393
436 E>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 436 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777978866
CA9977040
436 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA9977036
rs755241504
CA409819615
437 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA9977037
rs781224316
437 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA409819624
rs1402432377
438 E>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1443714288
CA409819621
438 E>G No ClinGen
TOPMed
rs1299965815
CA409819627
439 K>* No ClinGen
TOPMed
gnomAD
rs1299965815
CA409819626
439 K>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA9977035
rs750118466
439 K>R No ClinGen
ExAC
gnomAD
CA9977032
rs757127690
441 V>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA9977033
rs757127690
441 V>I No ClinGen
ExAC
gnomAD
TCGA novel 442 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 442 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409819654
rs1183421286
443 F>S No ClinGen
gnomAD
CA409819661
rs760134432
444 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA9977028
rs760134432
444 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA9977029
rs763560950
444 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs1168082171 444 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9977026
rs767015423
445 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA409819664
rs767015423
445 T>N No ClinGen
ExAC
TOPMed
gnomAD
CA409819662
rs774999244
445 T>P No ClinGen
ExAC
rs767015423
CA409819665
445 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA9977027
rs774999244
445 T>S No ClinGen
ExAC
rs1249187064
CA409819668
446 I>F No ClinGen
TOPMed
gnomAD
rs1249187064
CA409819667
446 I>V No ClinGen
TOPMed
gnomAD
TCGA novel 447 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9977025
rs759301774
447 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 447 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1314078554
CA409819681
448 L>* No ClinGen
gnomAD
rs893673415
CA317616449
448 L>V No ClinGen
TOPMed
CA9977022
rs749783984
449 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1483152250
CA409819684
449 G>R No ClinGen
TOPMed
rs749783984
CA409819688
449 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA409819696
rs1391972379
450 K>N No ClinGen
gnomAD
CA9977020
rs770447075
451 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA409819707
rs147105244
452 S>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs768753774 452 S>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA9977018
rs147105244
452 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9977019
rs147105244
452 S>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs750148266
CA9976965
453 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs750148266
CA9976966
453 V>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 454 L>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 454 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9976964
rs765665858
454 L>V No ClinGen
ExAC
gnomAD
TCGA novel 455 D>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 455 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9976963
rs757597999
455 D>V No ClinGen
ExAC
gnomAD
TCGA novel 456 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409819739
rs1339213944
456 N>S No ClinGen
gnomAD
rs1168871321
CA409819746
457 I>T No ClinGen
gnomAD
CA9976962
rs754172584
457 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1398670772
CA409819751
458 T>A No ClinGen
TOPMed
CA409819752
rs761088080
458 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA9976960
rs761088080
458 T>K No ClinGen
ExAC
gnomAD
CA9976959
rs761088080
458 T>R No ClinGen
ExAC
gnomAD
CA9976958
rs775537174
459 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs759727745
CA9976956
459 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA9976957
rs759727745
459 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs1393711343
CA409819758
460 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs774516826
CA9976955
461 K>E No ClinGen
ExAC
gnomAD
TCGA novel 461 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409819775
rs1455136362
462 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA9976953
rs747920313
462 I>T No ClinGen
ExAC
gnomAD
CA9976954
rs771164931
462 I>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 462 I>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 463 L>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776296746
CA9976952
463 L>S No ClinGen
ExAC
gnomAD
rs1363734169
CA409819777
463 L>V No ClinGen
TOPMed
TCGA novel 464 I>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768632607
CA9976951
464 I>V No ClinGen
ExAC
gnomAD
rs745399187
CA9976947
465 D>E No ClinGen
ExAC
gnomAD
CA9976948
rs375070018
465 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9976950
rs746975259
465 D>N No ClinGen
ExAC
TOPMed
rs375070018
CA9976949
465 D>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA409819794
rs1250449526
466 V>E No ClinGen
gnomAD
CA9976946
rs778656033
466 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA9976942
rs375879420
CA9976941
467 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs764426950
CA9976943
467 F>Y No ClinGen
ExAC
TOPMed
gnomAD
CA409819802
rs774428997
468 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA9976938
rs774428997
468 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA9976939
rs774428997
468 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA9976936
rs763153044
469 G>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 469 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409819808
rs763153044
469 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1354640466
CA409819813
470 L>I No ClinGen
TOPMed
gnomAD
VAR_025400
rs150482
CA9976935
470 L>P No ClinGen
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA409819816
rs150482
470 L>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA409819814
rs1354640466
470 L>V No ClinGen
TOPMed
gnomAD
CA9976933
rs760629727
471 P>L No ClinGen
ExAC
gnomAD
CA409819817
rs1600993043
471 P>S No ClinGen
Ensembl
TCGA novel 472 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1414458154
CA409819823
472 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA9976928
CA409819832
rs778568331
473 Y>* No ClinGen
ExAC
gnomAD
CA9976929
rs745316124
473 Y>C No ClinGen
ExAC
gnomAD
TCGA novel 474 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel
rs748945618
CA9976926
475 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
gnomAD
NCI-TCGA
rs1314927846
CA409819841
475 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs770609988
CA9976927
475 D>V No ClinGen
ExAC
gnomAD
TCGA novel 476 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1482196458
CA409819847
476 V>M No ClinGen
gnomAD
rs1223616174
CA409819854
477 K>E No ClinGen
gnomAD
rs756398586
CA9976924
478 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs755481564
CA409819867
479 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs755481564
CA9976921
479 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA9976920
rs751635609
479 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs766425558
CA9976919
480 F>V No ClinGen
ExAC
gnomAD
rs750650542
CA9976916
481 F>L No ClinGen
ExAC
TOPMed
CA9976918
rs763210612
481 F>L No ClinGen
ExAC
gnomAD
rs1346991719
CA409819882
481 F>S No ClinGen
TOPMed
gnomAD
rs9996
CA9976914
482 Y>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9976915
rs765526982
482 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs9996
CA9976913
VAR_061895
482 Y>S No ClinGen
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA9976911
rs773893493
483 S>* No ClinGen
ExAC
TOPMed
gnomAD
CA9976910
rs773893493
483 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA409819891
rs1347924791
483 S>P No ClinGen
gnomAD
CA409819890
rs1347924791
483 S>T No ClinGen
gnomAD
CA409819908
rs1408933974
484 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs779199298
CA9976761
485 L>F No ClinGen
ExAC
TCGA novel 485 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1448069894
CA409819920
486 P>L No ClinGen
gnomAD
CA9976760
rs757759527
486 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs532224827
CA9976758
487 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1430694330
CA409819924
487 T>I No ClinGen
gnomAD
CA9976752
rs769521893
488 Y>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs148862984
CA9976753
488 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs146928839
CA9976755
488 Y>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs146928839
CA9976754
488 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA409819936
rs200633993
489 Y>* No ClinGen
1000Genomes
ExAC
gnomAD
rs549704276
CA9976751
489 Y>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA409819943
rs1236955411
490 D>E No ClinGen
gnomAD
rs1473140271
CA409819937
490 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA9976749
rs768731357
491 N>H No ClinGen
ExAC
gnomAD
TCGA novel 491 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9976748
rs529676177
491 N>S No ClinGen
1000Genomes
ExAC
gnomAD
rs771832897
CA9976747
492 C>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 492 C>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409819956
rs1431634382
492 C>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA9976746
rs771832897
492 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA9976744
rs757521579
493 S>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs757521579
CA9976743
493 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs745555372
CA9976745
493 S>P No ClinGen
ExAC
gnomAD
rs778188505
CA9976741
495 Y>* No ClinGen
ExAC
gnomAD
rs1356305685
CA409819969
495 Y>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA409819981
TCGA novel
rs1482904884
CA409819982
496 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
TOPMed
rs1443822256
CA409819977
496 F>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1231704238
CA409819988
497 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 497 W>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767633388
CA9976738
499 H>P No ClinGen
ExAC
gnomAD
CA317618717
rs796722833
499 H>Q No ClinGen
TOPMed
rs752760516
CA9976739
499 H>Y No ClinGen
ExAC
gnomAD
CA409820005
rs1367238972
500 T>A No ClinGen
TOPMed
gnomAD
TCGA novel
rs1600996595
CA409820009
500 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
Ensembl
CA409820010
rs761460005
501 S>A No ClinGen
ExAC
gnomAD
CA409820013
rs1411624452
501 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA9976734
rs761460005
501 S>P No ClinGen
ExAC
gnomAD
CA9976735
rs761460005
501 S>T No ClinGen
ExAC
gnomAD
TCGA novel 501 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 502 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776570136
CA9976732
503 I>F No ClinGen
ExAC
TOPMed
CA9976731
rs527406045
503 I>T No ClinGen
1000Genomes
ExAC
gnomAD
CA409820030
rs1288697280
504 E>G No ClinGen
gnomAD
rs775113189
CA9976729
504 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA9976728
rs771748827
505 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs879146658
CA317618774
506 N>D No ClinGen
Ensembl
CA9976726
rs773825579
506 N>K No ClinGen
ExAC
rs745413372
CA9976727
506 N>S No ClinGen
ExAC
gnomAD
CA317618785
rs201582298
507 R>K No ClinGen
1000Genomes
gnomAD
rs779962709
CA9976677
507 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA409820047
rs1451520909
507 R>W No ClinGen
TOPMed
gnomAD
CA409820061
rs1432945554
508 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 508 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772237648
CA9976675
509 Y>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 509 Y>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779218112
CA9976673
510 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA409820079
rs1419182732
511 P>S No ClinGen
gnomAD
CA409820085
rs1170862146
512 K>* No ClinGen
gnomAD
TCGA novel 512 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 512 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 512 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9976671
rs752528007
512 K>R No ClinGen
ExAC
gnomAD
TCGA novel 513 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 513 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 513 N>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9976669
rs754840934
513 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs754840934
CA9976670
513 N>T No ClinGen
ExAC
TOPMed
gnomAD
CA409820097
TCGA novel
rs751475912
514 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
ExAC
gnomAD
CA409820098
rs766253736
514 E>A No ClinGen
ExAC
TOPMed
gnomAD
CA409820100
rs372871658
514 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9976667
rs766253736
514 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs751475912
CA9976668
514 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA409820099
rs766253736
514 E>V No ClinGen
ExAC
TOPMed
gnomAD
rs761508227
CA9976663
516 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 516 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409820124
rs776836004
518 L>I No ClinGen
ExAC
gnomAD
CA9976662
rs776836004
518 L>V No ClinGen
ExAC
gnomAD
CA9976659
rs776015776
519 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs760975106
CA9976660
519 H>Y No ClinGen
ExAC
TCGA novel 520 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745874858
CA409820145
521 Q>L No ClinGen
ExAC
gnomAD
rs745874858
CA9976658
521 Q>P No ClinGen
ExAC
gnomAD
CA9976657
rs745874858
521 Q>R No ClinGen
ExAC
gnomAD
rs1262072150
CA409820151
522 K>I No ClinGen
TOPMed
TCGA novel 522 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779199857
CA409820157
523 A>P No ClinGen
ExAC
rs779199857
CA9976656
523 A>S No ClinGen
ExAC
rs537829038
CA409820161
524 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs749565759
CA409820162
524 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA9976653
rs749565759
524 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs537829038
CA9976654
524 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs376317057
CA9976650
525 R>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 525 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 525 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs535557577
CA9976649
526 I>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9976648
rs758400092
526 I>N No ClinGen
ExAC
gnomAD
CA409820172
rs758400092
526 I>T No ClinGen
ExAC
gnomAD
CA9976646
rs764772581
527 Y>C No ClinGen
ExAC
TOPMed
CA9976647
rs567724468
527 Y>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 528 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 528 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 529 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1369604042
CA409820187
529 S>T No ClinGen
gnomAD
TCGA novel 530 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409820197
rs1421544267
530 D>G No ClinGen
gnomAD
rs761421704
CA9976645
530 D>H No ClinGen
ExAC
gnomAD
TCGA novel 531 F>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409820202
rs1182485036
531 F>V No ClinGen
gnomAD
rs868380365
CA317620481
532 A>V No ClinGen
TOPMed
TCGA novel 533 V>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1211489256
CA409820217
533 V>G No ClinGen
TOPMed
gnomAD
CA409820214
rs373095461
533 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9976643
rs373095461
533 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 534 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1319960887
TCGA novel
CA409820225
534 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA409820227
rs761042461
535 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA9976642
rs761042461
535 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs775720107
CA9976641
536 L>F No ClinGen
ExAC
gnomAD
rs768133066
CA9976640
536 L>R No ClinGen
ExAC
gnomAD
TCGA novel 537 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774542896
CA9976638
537 F>L No ClinGen
ExAC
gnomAD
rs1229208656
CA409820248
538 G>D No ClinGen
gnomAD
TCGA novel 538 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 538 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9976635
rs369994889
539 E>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1388898170
CA409820251
539 E>G No ClinGen
gnomAD
CA9976634
rs369994889
539 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA409820255
rs746818662
540 K>E No ClinGen
ExAC
gnomAD
CA9976633
rs746818662
540 K>Q No ClinGen
ExAC
gnomAD
TCGA novel 540 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758305832
CA9976631
CA317620513
541 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 541 M>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409820266
rs779885514
541 M>R No ClinGen
ExAC
gnomAD
CA9976632
rs779885514
541 M>T No ClinGen
ExAC
gnomAD
CA409820270
rs1173421612
542 T>A No ClinGen
gnomAD
CA9976630
rs146524466
542 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs146524466
CA409820271
542 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 542 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9976629
rs527927451
543 S>F No ClinGen
1000Genomes
ExAC
gnomAD
CA9976627
rs571598993
544 S>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
TOPMed
CA409820281
rs1409385803
544 S>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA9976626
rs756738534
544 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs759410796 544 S>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs755786653
CA9976623
545 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs267606168
CA9976624
545 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA317620541
rs267606168
545 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA409820285
rs755786653
545 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs267606168
CA9976625
545 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs753090991
CA409820292
546 V>A No ClinGen
ExAC
gnomAD
CA9976622
rs753090991
546 V>D No ClinGen
ExAC
gnomAD
TCGA novel 546 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs144163164
CA9976621
547 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144163164
CA409820294
547 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1448082435
CA409820302
548 A>G No ClinGen
gnomAD
rs169758
VAR_057348
CA9976620
549 G>E No ClinGen
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 550 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 550 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1332068983
CA409820317
551 D>G No ClinGen
TOPMed
gnomAD
CA9976617
rs144623440
551 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs144623440
CA9976618
551 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 552 D>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770046700
CA9976615
552 D>K No ClinGen
ExAC
gnomAD
TCGA novel 552 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA

No associated diseases with P56180

5 regional properties for P56180

Type Name Position InterPro Accession
domain Tyrosine-specific protein phosphatases domain 313 - 381 IPR000387
domain Tensin phosphatase, C2 domain 409 - 540 IPR014020
active_site Protein-tyrosine phosphatase, active site 336 - 346 IPR016130
domain Tensin-type phosphatase domain 228 - 404 IPR029023
domain TPTE, protein tyrosine phosphatase-like catalytic domain 224 - 400 IPR045102

Functions

Description
EC Number 3.1.3.48 Phosphoric monoester hydrolases
Subcellular Localization
  • Membrane; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
cell projection A prolongation or process extending from a cell, e.g. a flagellum or axon.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

2 GO annotations of molecular function

Name Definition
phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity Catalysis of the reaction: phosphatidylinositol-3,4,5-trisphosphate + H2O = phosphatidylinositol-4,5-bisphosphate + phosphate.
protein tyrosine phosphatase activity Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate.

8 GO annotations of biological process

Name Definition
cell motility Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another.
dephosphorylation The process of removing one or more phosphoric (ester or anhydride) residues from a molecule.
negative regulation of cell population proliferation Any process that stops, prevents or reduces the rate or extent of cell proliferation.
phosphatidylinositol 3-kinase signaling A series of reactions within the signal-receiving cell, mediated by the intracellular phosphatidylinositol 3-kinase (PI3K). Many cell surface receptor linked signaling pathways signal through PI3K to regulate numerous cellular functions.
phosphatidylinositol dephosphorylation The process of removing one or more phosphate groups from a phosphatidylinositol.
protein dephosphorylation The process of removing one or more phosphoric residues from a protein.
regulation of protein kinase B signaling Any process that modulates the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B.
signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MNESPDPTDL AGVIIELGPN DSPQTSEFKG ATEEAPAKES PHTSEFKGAA RVSPISESVL
70 80 90 100 110 120
ARLSKFEVED AENVASYDSK IKKIVHSIVS SFAFGLFGVF LVLLDVTLIL ADLIFTDSKL
130 140 150 160 170 180
YIPLEYRSIS LAIALFFLMD VLLRVFVERR QQYFSDLFNI LDTAIIVILL LVDVVYIFFD
190 200 210 220 230 240
IKLLRNIPRW THLLRLLRLI ILLRIFHLFH QKRQLEKLIR RRVSENKRRY TRDGFDLDLT
250 260 270 280 290 300
YVTERIIAMS FPSSGRQSFY RNPIKEVVRF LDKKHRNHYR VYNLCSERAY DPKHFHNRVV
310 320 330 340 350 360
RIMIDDHNVP TLHQMVVFTK EVNEWMAQDL ENIVAIHCKG GTDRTGTMVC AFLIASEICS
370 380 390 400 410 420
TAKESLYYFG ERRTDKTHSE KFQGVKTPSQ KRYVAYFAQV KHLYNWNLPP RRILFIKHFI
430 440 450 460 470 480
IYSIPRYVRD LKIQIEMEKK VVFSTISLGK CSVLDNITTD KILIDVFDGL PLYDDVKVQF
490 500 510 520 530 540
FYSNLPTYYD NCSFYFWLHT SFIENNRLYL PKNELDNLHK QKARRIYPSD FAVEILFGEK
550
MTSSDVVAGS D